Exploring Genomic Landscapes and Chromosomal Aberrations: Implications in Human Genetic Disorders and Infectious Disease Pathogenesis

Recent advancements in genomic technologies have greatly advanced our understanding of genomic regions implicated in disease processes, including pathogenicity islands and chromosomal aberrations. Once viewed as structural anomalies or foreign elements, these genomic regions are now recognized as key modulators of of developmental processes, and disease susceptibility. Regions such as pathogenicity islands—distinct bacterial genomic segments that harbor virulence-associated genes—and chromosomal aberrations, including deletions, duplications, translocations, and inversions, are central drivers of phenotypic variability seen in various diseases.

The growing capacity to accurately map these genomic regions and analyze their impacts at high resolution offers powerful opportunities to explore genotype-phenotype relationships. Such studies can reveal novel molecular mechanisms underlying a range of medical conditions, from developmental malformations linked to chromosomal anomalies, such as ATRX syndrome, to pathogen-induced infectious diseases facilitated by horizontally acquired genomic islands. Furthermore, chromosomal aberrations are hallmarks of several hereditary and sporadic cancers, highlighting the clinical importance of comprehensive characterization of these genomic alterations.

Clarifying the biological significance of genomic islands and chromosomal aberrations provides critical insights into pathogenesis and disease susceptibility broadening the scope for the development of novel diagnostic biomarkers and tailored therapeutic strategies. Integrative genomic approaches, including comparative genomics, large-scale sequencing, transcriptomics, and bioinformatics-driven analyses, are particularly promising for furthering our understanding of these disease-associated genomic landscapes.

The goal of this Research Topic is to provide a modern perspective on the roles of genomic regions, specifically pathogenicity islands and chromosomal aberrations, in disease etiologies and pathogenesis. It aims to encourage innovative contributions detailing the mapping and functional characterization of these genomic features, highlighting genotype-phenotype correlations, identifying new disease-related mutations, and investigating interactions between host genomes and pathogenic organisms. Furthermore, this collection will emphasize how insights into these genomic factors can guide the development of improved diagnostic tools, biomarkers, and targeted therapeutic interventions.

We encourage submissions that address various aspects of genomic islands and chromosomal aberrations, focusing on their roles in diseases such as developmental malformations, cancer syndromes, and pathogen-induced pathologies. Potential themes include, but are not limited to:

• Characterization and functional analyses of pathogenicity islands in infectious pathogens.

• Mechanisms through which chromosomal aberrations contribute to developmental disorders, with a particular focus on ATRX syndrome and related chromatin remodeling conditions.

• Detailed genotype-phenotype correlation studies identifying novel pathogenic mutations and their clinical outcomes.

• Bioinformatics and computational methods for mapping and interpreting genomic islands and structural genomic aberrations in health and disease.

• The interplay between host genomic variations and microbial genomic islands in pathogen-host interactions.

• Investigations of chromosomal instability in cancer progression and its implications for precision oncology.

• Development and clinical validation of genomic biomarkers derived from chromosomal aberrations for diagnostics, prognosis, and therapeutic predictions.

• Therapeutic strategies targeting molecular pathways affected by genomic aberrations and pathogenicity islands.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Technology and Code

Keywords: genomic landscapes, chromosomal aberrations, genetic disorders, transcriptomics, Chromatin remodeling

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.